Pearson syndrome

Preferred Label : Pearson syndrome;

ICD-11 definition : Pearson syndrome is a mitochondrial oxidative phosphorylation defect characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.;

Details

Origin ID

452521132;

UMLS CUI

C0342784;

Currated CISMeF NLP mapping
- Pearson Syndrome [NCIt concept]
- Pearson marrow-pancreas syndrome [OMIM Phenotype]
- Pearson syndrome [DO Concept]
- Pearson syndrome [ORDO Disease]
- Pearson syndrome [Disease (Nov.)]
- Pearson's syndrome [MedDRA Preferred Term]
- Pearson's syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pearson Syndrome [NCIt concept]
- Pearson marrow-pancreas syndrome [OMIM Phenotype]
- Pearson syndrome [DO Concept]
- Pearson syndrome [ORDO Disease]
- Pearson's syndrome [MedDRA Preferred Term]
- Pearson's syndrome (disorder) [SNOMED CT concept]
- VLCAD deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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